A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588498



Internal ID6628790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197350621..197460550hg38UCSC Ensembl
Innerchr1:197350621..197460550hg38UCSC Ensembl
Outerchr1:197350121..197461050hg38UCSC Ensembl
chr1:197319751..197429680hg19UCSC Ensembl
Innerchr1:197319751..197429680hg19UCSC Ensembl
Outerchr1:197319251..197430180hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38109930
hg19109930
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv73e214
Supporting Variantsessv10253813
SamplesHG02012
Known GenesCRB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588498
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer